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Erythromelalgia

MedGen UID:
8687
Concept ID:
C0014804
Disease or Syndrome
Synonyms: Erythermalgia; Erythermalgias; Erythromelalgias
SNOMED CT: Erythromelalgia (37151006); Weir Mitchell's disease (37151006); Erythralgia (37151006); Erythermalgia (37151006)
 
HPO: HP:0032147
Monarch Initiative: MONDO:0016028

Definition

Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythromelalgia
Follow this link to review classifications for Erythromelalgia in Orphanet.

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).

Professional guidelines

PubMed

Tremblay D, Kremyanskaya M, Mascarenhas J, Hoffman R
JAMA 2025 Jan 14;333(2):153-160. doi: 10.1001/jama.2024.20377. PMID: 39556352
Caldito EG, Caldito NG, Kaul S, Piette W, Mehta S
J Am Acad Dermatol 2024 Mar;90(3):465-474. Epub 2023 Jun 24 doi: 10.1016/j.jaad.2023.02.070. PMID: 37364616
Khalil S, Kurban M, Abbas O
J Am Acad Dermatol 2022 Sep;87(3):614-622. Epub 2020 Jun 1 doi: 10.1016/j.jaad.2020.05.113. PMID: 32497688

Recent clinical studies

Etiology

Tremblay D, Kremyanskaya M, Mascarenhas J, Hoffman R
JAMA 2025 Jan 14;333(2):153-160. doi: 10.1001/jama.2024.20377. PMID: 39556352
Fealey RD
Handb Clin Neurol 2018;157:777-787. doi: 10.1016/B978-0-444-64074-1.00048-3. PMID: 30459040
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Gibbons CH
Continuum (Minneap Minn) 2014 Oct;20(5 Peripheral Nervous System Disorders):1398-412. doi: 10.1212/01.CON.0000455874.68556.02. PMID: 25299289
Tarach JS, Nowicka-Tarach BM
Med Sci Monit 2000 Mar-Apr;6(2):421-5. PMID: 11208349

Diagnosis

Zahn C, Puga C, Malik A, Khanna D
Best Pract Res Clin Rheumatol 2024 Mar;38(1):101948. Epub 2024 May 3 doi: 10.1016/j.berh.2024.101948. PMID: 38704280
Kitamura W, Kuyama S
Intern Med 2024 May 1;63(9):1327. Epub 2023 Sep 29 doi: 10.2169/internalmedicine.2718-23. PMID: 37779056Free PMC Article
Caldito EG, Kaul S, Caldito NG, Piette W, Mehta S
J Am Acad Dermatol 2024 Mar;90(3):453-462. Epub 2023 Jun 24 doi: 10.1016/j.jaad.2023.02.071. PMID: 37364617
Caiza-Zambrano F, Galarza J, Benetti M, Gonzalez F, Landriscina P, Reisin R, León-Cejas L
Pract Neurol 2023 Aug;23(4):343-345. Epub 2023 Jun 30 doi: 10.1136/pn-2023-003770. PMID: 37391230
Mann N, King T, Murphy R
Clin Exp Dermatol 2019 Jul;44(5):477-482. Epub 2019 Jan 4 doi: 10.1111/ced.13891. PMID: 30609105

Therapy

Caiza-Zambrano F, Galarza J, Benetti M, Gonzalez F, Landriscina P, Reisin R, León-Cejas L
Pract Neurol 2023 Aug;23(4):343-345. Epub 2023 Jun 30 doi: 10.1136/pn-2023-003770. PMID: 37391230
Mann N, King T, Murphy R
Clin Exp Dermatol 2019 Jul;44(5):477-482. Epub 2019 Jan 4 doi: 10.1111/ced.13891. PMID: 30609105
Raieli V, Compagno A, D'Amelio M
Curr Pain Headache Rep 2016 Mar;20(3):19. doi: 10.1007/s11916-016-0547-y. PMID: 26879877
Habib AM, Wood JN, Cox JJ
Handb Exp Pharmacol 2015;227:39-56. doi: 10.1007/978-3-662-46450-2_3. PMID: 25846613
Gayraud M
Joint Bone Spine 2007 Jan;74(1):e1-8. Epub 2006 Dec 4 doi: 10.1016/j.jbspin.2006.07.002. PMID: 17218139

Prognosis

Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Brière JB
Orphanet J Rare Dis 2007 Jan 8;2:3. doi: 10.1186/1750-1172-2-3. PMID: 17210076Free PMC Article
Tarach JS, Nowicka-Tarach BM
Med Sci Monit 2000 Mar-Apr;6(2):421-5. PMID: 11208349
Tarach JS, Nowicka-Tarach BM, Matuszek B, Nowakowski A
Med Sci Monit 2000 Jan-Feb;6(1):204-8. PMID: 11208311
Fam AG
Baillieres Best Pract Res Clin Rheumatol 2000 Sep;14(3):515-33. doi: 10.1053/berh.2000.0091. PMID: 10985984

Clinical prediction guides

Tremblay D, Kremyanskaya M, Mascarenhas J, Hoffman R
JAMA 2025 Jan 14;333(2):153-160. doi: 10.1001/jama.2024.20377. PMID: 39556352
Wisedchaisri G, Gamal El-Din TM, Powell NM, Zheng N, Catterall WA
J Gen Physiol 2023 Dec 4;155(12) Epub 2023 Oct 30 doi: 10.1085/jgp.202313450. PMID: 37903281Free PMC Article
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H
J Peripher Nerv Syst 2023 Dec;28(4):597-607. Epub 2023 Aug 18 doi: 10.1111/jns.12590. PMID: 37555797
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Tarach JS, Nowicka-Tarach BM
Med Sci Monit 2000 Mar-Apr;6(2):421-5. PMID: 11208349

Recent systematic reviews

Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM
J Pediatr 2019 Mar;206:217-224.e9. Epub 2018 Nov 9 doi: 10.1016/j.jpeds.2018.10.024. PMID: 30416015

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